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https://www.readbyqxmd.com/read/28938658/comparison-of-direct-sequencing-and-amplification-refractory-mutation-system-for-detecting-epidermal-growth-factor-receptor-mutation-in-non-small-cell-lung-cancer-patients-a-systematic-review-and-meta-analysis
#1
Qi Feng, Zu-Yao Yang, Jia-Tong Zhang, Jin-Ling Tang
BACKGROUND: Direct sequencing and amplification refractory mutation system (ARMS) are commonly used to detect epidermal growth factor receptor (EGFR) mutation status in patients with non-small-cell lung cancer to inform the decision-making on tyrosine kinase inhibitors treatment. This study aimed to systematically compare the two methods in terms of the rate of detected mutations and the association of detected mutations with clinical outcomes. MATERIAL AND METHODS: PubMed, EMBASE, China National Knowledge Infrastructure (in Chinese) and Wanfang database (in Chinese) were searched to identify relevant studies...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938601/mutation-profile-based-methods-for-understanding-selection-forces-in-cancer-somatic-mutations-a-comparative-analysis
#2
Zhan Zhou, Yangyun Zou, Gangbiao Liu, Jingqi Zhou, Jingcheng Wu, Shimin Zhao, Zhixi Su, Xun Gu
Human genes exhibit different effects on fitness in cancer and normal cells. Here, we present an evolutionary approach to measure the selection pressure on human genes, using the well-known ratio of the nonsynonymous to synonymous substitution rate in both cancer genomes (CN /CS ) and normal populations (pN /pS ). A new mutation-profile-based method that adopts sample-specific mutation rate profiles instead of conventional substitution models was developed. We found that cancer-specific selection pressure is quite different from the selection pressure at the species and population levels...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938539/dissemination-of-macrolides-fusidic-acid-and-mupirocin-resistance-among-staphylococcus-aureus-clinical-isolates
#3
Xingmei Liu, Shanshan Deng, Jinwei Huang, Yaling Huang, Yu Zhang, Qin Yan, Yanhong Wang, Yanyue Li, Chengfu Sun, Xu Jia
As an increasingly common cause of skin infections worldwide, the prevalence of antibiotic-resistant Staphylococcus aureus (S. aureus) across China has not been well documented. This literature aims to study the resistance profile to commonly used antibiotics, including macrolides, fusidic acid (FA) and mupirocin, and its relationship to the genetic typing in 34 S. aureus strains, including 6 methicillin-resistant S. aureus (MRSA), isolated from a Chinese hospital. The MIC results showed 27 (79.4%), 1 (2.9%) and 6 (17...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938537/mir-590-3p-promotes-proliferation-and-metastasis-of-colorectal-cancer-via-hippo-pathway
#4
Zhen-Qiang Sun, Ke Shi, Quan-Bo Zhou, Xiang-Yue Zeng, Jinbo Liu, Shuai-Xi Yang, Qi-San Wang, Zhen Li, Gui-Xian Wang, Jun-Min Song, Wei-Tang Yuan, Hai-Jiang Wang
Studies reported that miR-590-3p was involved in human cancer progression. However, its roles of oncogene or anti-oncogene in malignancies still remain elusive. This study was aimed to investigate the effect of miR-590-3p on the cell proliferation and metastasis via Hippo pathway in colorectal cancer (CRC). In our study, miR-590-3p was demonstrated highly expressed in CRC tissues, compared with adjacent normal tissues (P<0.05). In addition, miR-590-3p was positively associated with TNM stage and distant metastasis...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938488/ovarian-aging-in-women-with-brca-germline-mutations
#5
Wayne Lin, Shiny Titus, Fred Moy, Elizabeth S Ginsburg, Kutluk Oktay
Context: Recent clinical and laboratory studies suggested that women with BRCA mutations have lower ovarian reserve and their primordial follicle oocytes may be more prone to DNA damage but the direct proof is lacking. Objective: To determine whether women with germline BRCA mutations have reduced primordial follicle reserve and increased oocyte DNA damage. Design: A laboratory comparative study of ovarian tissue obtained from the risk-reducing salpingo- oophorectomy (RRSO) samples of unaffected BRCA mutation carrier (BMC) women vs...
August 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938468/long-term-natural-course-of-small-non-functional-pancreatic-neuroendocrine-tumors-in-men1-results-from-the-dmsg
#6
Carolina R C Pieterman, Joanne M de Laat, Jos W R Twisk, Rachel S van Leeuwaarde, Wouter W de Herder, Koen M A Dreijerink, Ad R M M Hermus, Olaf M Dekkers, Anouk N A van der Horst-Schrivers, Madeleine L Drent, Peter H Bisschop, Bastiaan Havekes, Inne H M Borel Rinkes, Menno R Vriens, Gerlof D Valk
Background: Pancreatic neuroendocrine tumors (pNETs) are highly prevalent in patients with Multiple Endocrine Neoplasia type 1 (MEN1) and metastatic disease is an important cause of MEN1-related mortality. Especially small non-functional (NF) pNETs pose a challenge to the treating physician and more information is needed regarding their natural course. We assessed long-term natural history of small NF-pNETs and its modifiers in the Dutch MEN1 population. Patients and Methods: Retrospective longitudinal observational cohort study of patients with small (<2cm) NF-pNETs from the Dutch national MEN1 database which includes >90% of the Dutch MEN1 population...
August 4, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28937963/ki67-and-lymphocytes-in-the-pretherapeutic-core-biopsy-of-primary-invasive-breast-cancer-positive-markers-of-therapy-response-prediction-and-superior-survival
#7
REVIEW
Claus M Schlotter, Lothar Tietze, Ulf Vogt, Carlos Villena Heinsen, Antje Hahn
Background Core needle biopsy plays a crucial role as diagnostic tool for BC. Both Ki67 and likely tumor-infiltrating lymphocytes (TILs) in the near future are determining the kind of systemic therapy. The role of TILs in BC is still an issue for clinical research, albeit preliminary results of neoadjuvant and adjuvant clinical studies already now highlight the crucial impact of TILs on therapy response and survival. Methods Evaluation of related publications (pubmed) and meeting abstracts (ASCO, SABCS). Results The monoclonal antibody Ki67 recognizing a nuclear antigene in proliferating cells is a positive marker of therapy response and superior survival...
September 22, 2017: Hormone Molecular Biology and Clinical Investigation
https://www.readbyqxmd.com/read/28937371/npm1-and-flt3-mutations-in-acute-myeloid-leukemia-with-normal-karyotype-indian-perspective
#8
Sudha Sazawal, Neha Singh, Sonal Jain, Sunita Chhikara, Rekha Chaubey, Jina Bhattacharyya, Kandarpa Kr Saikia, Manoranjan Mahapatra, Renu Saxena
BACKGROUND: FLT3-ITD and NPM1 mutations are considered to be the major determinants of the patient response to therapy and outcome. The primary aim of this study was to establish the correlation between these molecular mutations and the clinico-hematologic parameters as well as the prognostic outcome of the Indian acute myeloid leukemia (AML) patients. MATERIALS AND METHODS: This prospective study involved newly diagnosed nonpromyelocytic AML patients who had undergone complete diagnostic workup, including immunophenotyping, conventional cytogenetics and molecular analysis for NPM1 and FLT3-ITD mutation by reverse transcriptase polymerase chain reaction at presentation...
July 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28937020/unique-characteristics-of-arid1a-mutation-and-protein-level-in-gastric-and-colorectal-cancer-a-meta-analysis
#9
REVIEW
Young-Sik Kim, Hoiseon Jeong, Jung-Woo Choi, Hwa Eun Oh, Ju-Han Lee
BACKGROUND/AIM: Recently, AT-rich interactive domain-containing 1A protein (ARID1A) has been identified as a novel tumor suppressor gene in gastric cancer (GC) and colorectal cancer (CRC). However, the clinicopathologic value of ARID1A mutation or protein level in GC and CRC patients is controversial. Hence, we conducted a meta-analysis on the relationship between ARID1A aberrations and clinicopathologic parameters in GC and CRC. MATERIALS AND METHODS: Relevant published studies were selected from PubMed and EMBASE...
September 2017: Saudi Journal of Gastroenterology: Official Journal of the Saudi Gastroenterology Association
https://www.readbyqxmd.com/read/28936814/-the-role-of-molecular-karyotyping-in-the-genetic-etiology-of-autism
#10
Burcu Özbaran, Bilçağ Akgün, Duygu Kaçamak, Sezen Köse, Ayşenur Kavasoğlu, Hüseyin Onay
OBJECTIVE: The aim of this study was to investigate the deletions and duplications with a molecular karyotyping technique and to elucidate the etiology of autism. METHOD: A total of 31 patients (20 boys and 11 girls) between 4 to 18 years old with normal chromosomal analysis and no Fragile X mutation were diagnosed in the Ege University Child and Adolescent Psychiatry Clinic with autism (according to DSM-IV-TR criteria) and were enrolled in the study. Symptom severity of the patients was evaluated with a Childhood Autism Rating Scale...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28936567/metformin-as-a-repurposed-therapy-in-advanced-non-small-cell-lung-cancer-nsclc-results-of-a-phase-ii-trial
#11
Anish B Parikh, Peter Kozuch, Nicholas Rohs, Daniel J Becker, Benjamin P Levy
Background Metformin has been shown to have anti-neoplastic activity in non-small cell lung cancer (NSCLC) in both preclinical and observational studies, however this has never been prospectively evaluated. This single-arm phase II trial, while not fully accrued, is the first known prospective study evaluating the use of metformin with chemotherapy in advanced NSCLC. Methods Patients received carboplatin AUC 5 + pemetrexed 500 mg/m2 IV every 21 days for 4 cycles. For patients who achieved at least stable disease, maintenance pemetrexed was administered until progression or toxicity...
September 22, 2017: Investigational New Drugs
https://www.readbyqxmd.com/read/28935894/strain-dependent-neutralization-reveals-antigenic-variation-of-human-parechovirus-3
#12
Eveliina Karelehto, Sabine van der Sanden, James A Geraets, Aušra Domanska, Lonneke van der Linden, Dionne Hoogendoorn, Gerrit Koen, Hetty van Eijk, Shabih Shakeel, Tim Beaumont, Menno de Jong, Dasja Pajkrt, Sarah J Butcher, Katja C Wolthers
Human parechovirus 3 (HPeV3), a member of the Picornavirus family, is frequently detected worldwide. However, the observed seropositivity rates for HPeV3 neutralizing antibodies (nAbs) vary from high in Japan to low in the Netherlands and Finland. To study if this can be explained by technical differences or antigenic diversity among HPeV3 strains included in the serological studies, we determined the neutralizing activity of Japanese and Dutch intravenous immunoglobulin batches (IVIG), a rabbit HPeV3 hyperimmune polyclonal serum, and a human HPeV3-specific monoclonal antibody (mAb) AT12-015, against the HPeV3 A308/99 prototype strain and clinical isolates from Japan, the Netherlands and Australia, collected between 1989 and 2015...
September 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28935015/-egfr-and-kras-gene-mutations-in-754-patients-with-resectable-stage-i-iiia-non-small-cell-lung-cancer-and-its-clinical-significance
#13
Jing Zhao, Jie Gao, Liping Guo, Xiaoxu Hu, Qi Liu, Jinyin Zhao, Licheng Liu, Jun Jiang, Mengzhao Wang, Zhiyong Liang, Yan Xu, Minjiang Chen, Li Zhang, Longyun Li, Wei Zhong
BACKGROUND: Epidermal growth factor receptor (EGFR) and KRAS gene are important driver genes of non-small cell lung cancer (NSCLC). The studies are mainly focused on detection of EGFR gene for advanced NSCLC, and the mutation feature of EGFR and KRAS gene in early NSCLC tissue is unknown. This study aims to investigate the mutations of EGFR and KRAS gene in NSCLC, and the relationship between the genotype and clinicopathologic features. METHODS: The hotspot mutations in EGFR and KRAS gene in 754 tissue samples of stage I-IIIa NSCLC from Department of Pathology, Peking Union Medical College Hospital were detected by modified amplification refractory mutation system (ARMS) real-time PCR kit, and analyzed their correlation with clinical variables...
September 20, 2017: Zhongguo Fei Ai za Zhi, Chinese Journal of Lung Cancer
https://www.readbyqxmd.com/read/28935011/-correlation-between-serum-tumor-markers-and-efficacy-of-first-line-egfr-tkis-in-patients-with-advanced-lung-adenocarcinoma
#14
Hanxiao Chen, Xue Yang, Huijun Liu, Kun Ma, Jia Zhong, Zhi Dong, Minglei Zhuo, Yuyan Wang, Jianjie Li, Tongtong An, Meina Wu, Ziping Wang, Jun Zhao
BACKGROUND: Epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) significantly improve the survival of advanced lung adenocarcinoma patients harboring EGFR mutation. Limited to the standards of tumor tissue samples and detection methods, still some people can't receive target therapy following genetic guidance. This study was to explore the relevance between serum tumor markers and treatment of EGFR-TKIs. METHODS: We retrospectively collected the clinical information of advanced lung adenocarcinoma patients harboring EGFR mutation, who received EGFR-TKIs as first-line therapy from June 2009 to June 2014 in Peking University Cancer Hospital, analyzed the relationship between serum tumor markers and efficacy of EGFR-TKIs...
September 20, 2017: Zhongguo Fei Ai za Zhi, Chinese Journal of Lung Cancer
https://www.readbyqxmd.com/read/28934846/egfr-mutation-status-in-lung-adenocarcinoma-associated-malignant-pleural-effusion-and-efficacy-of-egfr-tyrosine-kinase-inhibitors
#15
Jiyoul Yang, Ok-Jun Lee, Seung-Myoung Son, Chang Gok Woo, Yusook Jeong, Yaewon Yang, Jihyun Kwon, Ki Hyeong Lee, Hye Sook Han
Purpose: Malignant pleural effusions (MPEs) are often observed in lung cancer, particularly adenocarcinoma. The aim of this study was to investigate epidermal growth factor receptor (EGFR) mutation status in lung adenocarcinoma-associated MPEs (LA-MPEs) and its correlation with efficacy of EGFR tyrosine kinase inhibitor (TKI) therapy. Methods: Samples comprised 40 cell blocks of pathologically-confirmed LA-MPEs collected before the start of EGFR TKI therapy. EGFR mutation status was re-evaluated by peptide nucleic acid clamping and the clinical outcomes of EGFR TKI-treated patients were analyzed retrospectively...
September 19, 2017: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/28933646/visualizing-trna-dependent-mistranslation-in-human-cells
#16
Jeremy T Lant, Matthew D Berg, Daniel Hw Sze, Kyle S Hoffman, Ibukunoluwa C Akinpelu, Matthew Turk, Ilka U Heinemann, Martin L Duennwald, Christopher J Brandl, Patrick O'Donoghue
High-fidelity translation and a strictly accurate proteome were originally assumed as essential to life and cellular viability. Yet recent studies in bacteria and eukaryotic model organisms suggest that proteome-wide mistranslation can provide selective advantages and is tolerated in the cell at higher levels than previously thought (one error in 6.9 × 10(-4) in yeast) with a limited impact on phenotype. Previously, we selected a tRNA(Pro) containing a single mutation that induces mistranslation with alanine at proline codons in yeast...
September 21, 2017: RNA Biology
https://www.readbyqxmd.com/read/28933420/whole-genome-characterization-of-sequence-diversity-of-15-220-icelanders
#17
Hákon Jónsson, Patrick Sulem, Birte Kehr, Snaedis Kristmundsdottir, Florian Zink, Eirikur Hjartarson, Marteinn T Hardarson, Kristjan E Hjorleifsson, Hannes P Eggertsson, Sigurjon Axel Gudjonsson, Lucas D Ward, Gudny A Arnadottir, Einar A Helgason, Hannes Helgason, Arnaldur Gylfason, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Thorunn Rafnar, Soren Besenbacher, Michael L Frigge, Simon N Stacey, Olafur Th Magnusson, Unnur Thorsteinsdottir, Gisli Masson, Augustine Kong, Bjarni V Halldorsson, Agnar Helgason, Daniel F Gudbjartsson, Kari Stefansson
Understanding of sequence diversity is the cornerstone of analysis of genetic disorders, population genetics, and evolutionary biology. Here, we present an update of our sequencing set to 15,220 Icelanders who we sequenced to an average genome-wide coverage of 34X. We identified 39,020,168 autosomal variants passing GATK filters: 31,079,378 SNPs and 7,940,790 indels. Calling de novo mutations (DNMs) is a formidable challenge given the high false positive rate in sequencing datasets relative to the mutation rate...
September 21, 2017: Scientific Data
https://www.readbyqxmd.com/read/28933412/genetic-substrate-reduction-therapy-a-promising-approach-for-lysosomal-storage-disorders
#18
REVIEW
Maria Francisca Coutinho, Juliana Inês Santos, Liliana Matos, Sandra Alves
Lysosomal storage diseases are a group of rare genetic disorders characterized by the accumulation of storage molecules in late endosomes/lysosomes. Most of them result from mutations in genes encoding for the catabolic enzymes that ensure intralysosomal digestion. Conventional therapeutic options include enzyme replacement therapy, an approach targeting the functional loss of the enzyme by injection of a recombinant one. Even though this is successful for some diseases, it is mostly effective for peripheral manifestations and has no impact on neuropathology...
November 9, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28932588/kras-mutation-positive-mucinous-adenocarcinoma-originating-in-the-thymus
#19
Ichiro Sakanoue, Hiroshi Hamakawa, Daichi Fujimoto, Yukihiro Imai, Kazuhiro Minami, Keisuke Tomii, Yutaka Takahashi
Thymic carcinoma is a rare, aggressive disease with a low 5-year survival rate. The most common histological neoplastic thymic tumor subtype is squamous cell. We describe an interesting case of a 39-year-old woman who presented with mucinous adenocarcinoma that originated in the thymus and was treated via radical resection and venoplasty of the superior vena cava (SVC). Macroscopically, the resected tumor contained a solid region and multiple cysts with abundant mucin. Microscopic examination showed a papillary growth pattern of goblet cells with round nuclei...
August 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28932565/unique-distribution-of-programmed-death-ligand-1-pd-l1-expression-in-east-asian-non-small-cell-lung-cancer
#20
Yunjian Pan, Difan Zheng, Yuan Li, Xu Cai, Zongli Zheng, Yan Jin, Haichuan Hu, Chao Cheng, Lei Shen, Jian Wang, Hongbin Ji, Yihua Sun, Xiaoyan Zhou, Haiquan Chen
BACKGROUND: To determine the proportion and clinical features of programmed death ligand 1 (PD-L1) expression in East Asian non-small cell lung cancer (NSCLC). METHODS: PD-L1 expression was assessed by immunohistochemistry (IHC) and tumor proportion score (TPS) with the use of PD-L1 IHC 22C3 antibody (Dako North America) in 108 surgically resected lung squamous cell carcinomas (SCC) and 221 lung adenocarcinomas (LUADs), and was correlated with clinical variables, histologic subtypes, and common driver mutations...
August 2017: Journal of Thoracic Disease
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